Các đột biến TREM2 liên quan đến thoái hóa thần kinh làm suy giảm vận chuyển bề mặt tế bào và thực bào

Gernot Kleinberger1,2, Yoshinori Yamanishi3, Marc Suárez‐Calvet1,4,5, Eva Czirr6,7, Ebba Lohmann8,9,10, Elise Cuyvers11,12, Hanne Struyfs13, Nadine Pettkus1, Andrea Wenninger-Weinzierl14, Fargol Mazaheri14, Sabina Tahirović14, Alberto Lleó4,5, Daniel Alcolea4,5, Juan Fortea4,5, Michael Willem1, Sven Lammich1, José Luís Molinuevo15, Raquel Sánchez‐Valle15, Anna Antonell15, Alfredo Ramı́rez16,17, Michael T. Heneka18, Kristel Sleegers11,12, Julie van der Zee11,12, Jean‐Jacques Martin19, Sebastiaan Engelborghs20,13, Aslı Demirtaş-Tatlıdede8, Henrik Zetterberg21,22, Christine Van Broeckhoven11,12, Hakan Gürvıt8, Tony Wyss‐Coray6,7,23, John Hardy22, Marco Colonna3, Christian Haass1,14,2
1Adolf-Butenandt Institute, Biochemistry, Ludwig-Maximilians University Munich, 80336 Munich, Germany.
2Munich Cluster for Systems Neurology (SyNergy), 80336 Munich, Germany
3Department of Pathology and Immunology, Washington University School of Medicine, St. Louis, MO 63110, USA
4Center for Networked Biomedical Research for Neurodegenerative Diseases, CIBERNED, 28031 Madrid, Spain.
5Department of Neurology, Institut d’Investigacions Biomèdiques, Hospital de la Santa Creu i Sant Pau, Universitat Autònoma de Barcelona, 08025 Barcelona, Spain.
6Center for Tissue Regeneration, Repair and Restoration, Veterans Administration Palo Alto Health Care System, Palo Alto, CA 94304, USA.
7Department of Neurology and Neurological Sciences, Stanford University School of Medicine, Stanford, CA 94305 USA
8Behavioral Neurology and Movement Disorders Unit, Department of Neurology, Istanbul Faculty of Medicine, Istanbul University, 34093 Istanbul, Turkey.
9Department of Neurodegenerative Diseases, Hertie Institute for Clinical Brain Research, University of Tübingen, 72076 Tübingen, Germany.
10German Center for Neurodegenerative Diseases (DZNE), Tübingen, 72076 Tübingen, Germany.
11Laboratory of Neurogenetics, Institute Born-Bunge, University of Antwerp, 2610 Antwerp, Belgium.
12Neurodegenerative Brain Diseases Group, Department of Molecular Genetics, VIB, 2610 Antwerp, Belgium.
13Reference Center for Biological Markers of Dementia, Laboratory of Neurochemistry and Behavior, Institute Born-Bunge, University of Antwerp, 2610 Antwerp, Belgium.
14German Center for Neurodegenerative Diseases (DZNE), Munich, 80336 Munich, Germany.
15Alzheimer’s Disease and Other Cognitive Disorders Unit, Neurology Service, ICN Hospital Clinic i Universitari, 08036 Barcelona, Spain.
16Department of Psychiatry and Psychotherapy, University of Bonn, 53127 Bonn, Germany.
17Institute of Human Genetics, University of Bonn, 53127 Bonn, Germany
18German Center for Neurodegenerative Diseases (DZNE), 53127 Bonn, Germany
19Antwerp Biobank, Institute Born-Bunge, University of Antwerp, 2610 Antwerp, Belgium.
20Department of Neurology and Memory Clinic, Hospital Network Antwerp (ZNA), Middelheim and Hoge Beuken, 2020 Antwerp, Belgium.
21Institute of Neuroscience and Physiology, Department of Psychiatry and Neurochemistry, The Sahlgrenska Academy at the University of Gothenburg, S-431 80, Mölndal, Sweden
22Reta Lila Weston Laboratories and Department of Molecular Neuroscience, UCL Institute of Neurology, London WC1N 3BG, UK.
23Neuroscience IDP Program, Stanford University School of Medicine, Stanford, CA 94305, USA.

Tóm tắt

Mất chức năng TREM2 làm suy giảm quá trình thực bào và tương quan với sự giảm nồng độ TREM2 hòa tan trong các dịch sinh học của bệnh nhân mắc các rối loạn thoái hóa thần kinh.

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